Aliases: PPARG1, PPARG2, NR1C3, PPARgamma.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Berardinelli-Seip Congenital Lipodystrophy | causative germline |
mechanism: PPARG adipogenic nuclear receptor deficiency
subtype: CGL-PPARG
scoped to subtype: CGL-PPARG
|
| Familial Partial Lipodystrophy | causative germline |
mechanism: Loss of PPARgamma-driven adipogenic transcription
subtype: FPLD3
scoped to subtype: FPLD3
|
| Thyroid Follicular Carcinoma | somatic driver somatic |
mechanism: RAS and PAX8-PPARG Driver Alterations
|
| Diabetes mellitus |
untyped
Risk factor
|
scoped to subtype: type 2 diabetes mellitus
|
| Type 2 Diabetes Mellitus |
untyped
Risk Factor
|
mechanism: Insulin Resistance
computational model: Topp Beta-Cell Mass / Insulin / Glucose Model
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| lipodystrophy MONDO:0006573 | SD | Definitive 2024-08-14 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.